We report the hematological data of the codon 7 (AG>AG (: c.22G>T) mutation for the first time in two Albanian individuals from the region of Elbasan, who underwent genetic testing due to prenatal counseling and diagnosis for β-thalassemia major (β-TM) anemia. The phenotype was compatible with a typical β-thalassemia (β-thal) carrier but the hematological findings of the mutation has not been previously reported.
View Article and Find Full Text PDFThe rare hemoglobin (Hb) variant Hb Natal [α140(HC2)Tyr-Arg→0 (: c.423C>A)], detected on the α2-globin gene, is characterized by a shortened polypeptide chain because of a premature stop codon formation in codon 140. Here, we report identification of the same genetic variation but in the corresponding position of the α1-globin gene, in a heterozygous state, in five members of a Greek family.
View Article and Find Full Text PDFNon-invasive prenatal testing (NIPT) is based on the detection and characterization of circulating cell-free fetal DNA (ccffDNA) in maternal plasma and aims to identify genetic abnormalities. At present, commercial NIPT kits can detect only aneuploidies, small deletions and insertions and some paternally inherited single-gene point mutations causing genetic diseases, but not maternally inherited ones. In this work, we have developed two NIPT assays, based on the innovative and sensitive droplet digital PCR (ddPCR) technology, to identify the two most common β thalassemia mutations in the Mediterranean area (βIVSI-110 and β39), maternally and/or paternally inherited, by fetal genotyping.
View Article and Find Full Text PDFThe rare Hb Antibes-Juan-Les-Pins (: c.349_350insGTGTGCTGGCCC) was first reported in France. Hb Antibes-Juan-Les-Pins seems to be an innocuous variant and few published data are available.
View Article and Find Full Text PDFGreece is a country of ~11 million people, where hemoglobinopathies are the most common genetic diseases. The reported data describe the clinical phenotype of cases with coinheritance of triplicated α-globin (anti-α3.7 kb) and β-globin gene mutations in Northern Greece, that were referred within the last 10 years, in The Adult Thalassemia Unit of "Hippokration" Hospital, Thessaloniki, Northern Greece.
View Article and Find Full Text PDFHemoglobin
July 2018
Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past.
View Article and Find Full Text PDFBeta-thalassaemia is one of the most common autosomal recessive disorders worldwide. The disease's high incidence, which is observed in the broader Mediterranean area has led to the establishment of molecular diagnostics' assays to prevent affected births. Therefore, the development of a reliable, cost-effective and rapid scanning method for β globin gene point mutations, easily adapted to a routine laboratory, is absolutely essential.
View Article and Find Full Text PDFObjective: Progress in the management of patients with thalassemia intermedia (TI) enabled increasing rates of pregnancies among TI women worldwide. Nevertheless, information regarding TI pregnancy management and outcome is quite limited in the literature. The aim of this study was to report our experience regarding the maternal and fetal outcome of TI patients, as well as to depict the complexity of the disease and the need for multidisciplinary and personalized management as shown by the description of two interesting pregnancy cases.
View Article and Find Full Text PDFBackground: A progressive decline in pancreatic function is possible in cystic fibrosis (CF) patients with exocrine pancreatic sufficiency. The secretin-cholecystokinin test is invasive and not acceptable as a repeatable procedure for children. Steatorrhea, conversely, has low sensitivity.
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